Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256010G>C , CM000676.2:g.24256010G>C | GRCh38 |
| NC_000014.8:g.24725216G>C , CM000676.1:g.24725216G>C | GRCh37 |
| NC_000014.7:g.23795056G>C | NCBI36 |
| NG_007150.1:g.12157C>G | |
| NG_007150.2:g.12157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1470C>G MANE Select | ENSP00000206765.6:p.Asp490Glu | |
| ENST00000206765.10:c.1470C>G | ENSP00000206765.6:p.Asp490Glu | |
| ENST00000544573.5:c.144C>G | ENSP00000439446.1:p.Asp48Glu | |
| ENST00000559136.1:c.543C>G | ENSP00000453337.1:p.Asp181Glu | |
| NM_000359.2:c.1470C>G | NP_000350.1:p.Asp490Glu | |
| NM_000359.3:c.1470C>G MANE Select | NP_000350.1:p.Asp490Glu |